Canonical Allele Identifier: CA480442891

Gene: LYZ

Linked Data

• dbSNP Id: rs1217647953
• gnomAD v2: 12-69747300-G-A
• gnomAD v3: 12-69353520-G-A
• gnomAD v4: 12-69353520-G-A
• MyVariant Identifiers: chr12:g.69747300G>A (hg19) ; chr12:g.69353520G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.69353520G>A , CM000674.2:g.69353520G>A	GRCh38
NC_000012.11:g.69747300G>A , CM000674.1:g.69747300G>A	GRCh37
NC_000012.10:g.68033567G>A	NCBI36
NG_008195.1:g.10167G>A , LRG_768:g.10167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261267.7:c.*301G>A MANE Select	ENSP00000261267.2:n.*301G>A
ENST00000261267.6:c.*301G>A	ENSP00000261267.2:n.*301G>A
NM_000239.2:c.*301G>A , LRG_768t1:c.*301G>A	NP_000230.1:n.*301G>A
NM_000239.3:c.*301G>A MANE Select	NP_000230.1:n.*301G>A